A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471659



Internal ID15561173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:41586913..41747160hg38UCSC Ensembl
Innerchr9:46287856..46454477hg19UCSC Ensembl
Innerchr9:46177852..46344473hg18UCSC Ensembl
Innerchr9:43553554..43720175hg16UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38160248
hg19166622
hg18166622
hg16166622
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv550445, nssv548939, nssv548937, nssv548943, nssv550442, nssv548946, nssv550443, nssv550444, nssv548945, nssv550439, nssv548942, nssv548944, nssv548941, nssv548938, nssv550440, nssv548940, nssv550441
SamplesNA15732, NA15727, NA15733, NA15726, NA10979, NA11523, NA15724, JK1058B, NA10976, NA16688, NA10970
Known GenesFAM27E1
MethodBAC aCGH
AnalysisArray image analysis and normalization were performed using UCSF Spot and Sproc software (Jain et al. 2002). BACs for which only one of the triplicates printed on the array yielded data, or for which the standard deviation of log2 ratio for the triplicates was 10.2, were removed from final analysis. Furthermore, we discarded BACs that failed to yield data in <20% of cases. For each hybridization experiment, we established a threshold log2 ratio of 2 SDs from the mean of all autosomal clones, and BACs that exceeded this threshold in both independent dye-swap experiments were classified as variant.
PlatformGPL4010
Comments
ReferenceSharp_et_al_2005
Pubmed ID15918152
Accession Number(s)nsv471659
Frequency
Sample Size48
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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